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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA411307873
Gene: SLC5A1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr22:g.32439362A>C (hg19)
chr22:g.32043375A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.32043375A>C , CM000684.2:g.32043375A>C
GRCh38
NC_000022.10:g.32439362A>C , CM000684.1:g.32439362A>C
GRCh37
NC_000022.9:g.30769362A>C
NCBI36
NG_017045.1:g.5344A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000266088.9:c.94A>C
MANE Select
ENSP00000266088.4:p.Ile32Leu
ENST00000266088.8:c.94A>C
ENSP00000266088.4:p.Ile32Leu
NM_000343.3:c.94A>C
NP_000334.1:p.Ile32Leu
XM_011530331.1:c.94A>C
XP_011528633.1:p.Ile32Leu
NM_000343.4:c.94A>C
MANE Select
NP_000334.1:p.Ile32Leu
Search 100 bp 5'
Search 100 bp 3'